Journal article

Personalised pathway analysis reveals association between DNA repair pathway dysregulation and chromosomal instability in sporadic breast cancer

Chao Liu, Sriganesh Srihari, Samir Lal, Benoit Gautier, Peter T Simpson, Kum Kum Khanna, Mark A Ragan, Kim-Anh Le Cao



The Homologous Recombination (HR) pathway is crucial for the repair of DNA double-strand breaks (DSBs) generated during DNA replication. Defects in HR repair have been linked to the initiation and development of a wide variety of human malignancies, and exploited in chemical, radiological and targeted therapies. In this study, we performed a personalised pathway analysis independently for four large sporadic breast cancer cohorts to investigate the status of HR pathway dysregulation in individual sporadic breast tumours, its association with HR repair deficiency and its impact on tumour characteristics. Specifically, we first manually curated a list of HR genes according to our recent review..

View full abstract

University of Melbourne Researchers


Awarded by Australian National Health and Medical Research Council (NHMRC)

Awarded by NHMRC Career Development fellowship

Awarded by NHMRC

Funding Acknowledgements

This study makes use of data generated by the Molecular Taxonomy of Breast Cancer International Consortium funded by Cancer Research UK and the British Columbia Cancer Agency Branch. We also thank TOGA for providing the genomic data. This study was funded by the Australian National Health and Medical Research Council (NHMRC) Project Grant (ID: 1028742) to PTS and MAR. KALC was supported in part by the Australian Cancer Research Foundation (ACRF) for the Diamantina Individualised Oncology Care Centre at The University of Queensland Diamantina Institute and the NHMRC Career Development fellowship (ID: 1087415). KKK is an NHMRC Senior Principal Search Fellow (ID: 613638) supported by the NHMRC Project Grant (ID: 1017028).